Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rebecca Greenlees"'
Autor:
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
Publikováno v:
Journal of Medical Genetics. 60:294-300
BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which
Autor:
Samir, Bouasker, Nisha, Patel, Rebecca, Greenlees, Diana, Wellesley, Lucas, Fares Taie, Naif A, Almontashiri, Julia, Baptista, Malak Ali, Alghamdi, Sarah, Boissel, Jelena, Martinovic, Ivan, Prokudin, Samantha, Holden, Hardeep-Singh, Mudhar, Lisa G, Riley, Christina, Nassif, Tania, Attie-Bitach, Marguerite, Miguet, Marion, Delous, Sylvain, Ernest, Julie, Plaisancié, Patrick, Calvas, Jean-Michel, Rozet, Arif O, Khan, Fadi F, Hamdan, Robyn V, Jamieson, Fowzan S, Alkuraya, Jacques L, Michaud, Nicolas, Chassaing
Publikováno v:
Journal of medical genetics.
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inWe sequenced the exome of pat
Autor:
Katherine Anderson, Tom O. A. R. Missotten, Pauline C. Ng, James Malatack, Albert T. Vitale, Linda Zheng, Denise J. Morgan, Shankaracharya, Frank Martin, Robyn V. Jamieson, Alexis Jiaying Khng, Gary L. Farley, Iris H.I.M. Hollink, Leah A. Owen, Krista Kinard, Amin Sabri, Michael Polo, Julie Curtin, Kathleen B. Digre, John R. Grigg, Axel M. Hillmer, Margaux A. Morrison, Susan Arbuckle, P. Martin van Hagen, Neena B. Haider, Marjon van Slegtenhorst, Danica Novacic, George M. Rodgers, Rebecca Greenlees, Lloyd B. Williams, Anson Cheng, H. Nida Sen, Megan Chircop, Xiu Ting Heng, Mark C Gillies, Wadih M. Zein, Margaret M. DeAngelis, Sonia Davila, Stephen I. Alexander, Asif Javed, Chad D. Huff
Publikováno v:
Genetics in Medicine, 21(9), 2103-2115. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine
Purpose To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa53f311e1b3f3b6cdba7523a27dca29
https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616
https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616